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Molecular and Cellular Pediatrics

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Open Access 01-12-2015 | Mini review

Ciliopathies - from rare inherited cystic kidney diseases to basic cellular function

Authors: Sandra Habbig, Max Christoph Liebau

Published in: Molecular and Cellular Pediatrics | Issue 1/2015

Abstract

Background

Primary cilia are membrane-bound microtubule-based protuberances of the cell membrane projecting to the extracellular environment. While little attention was paid to this subcellular structure over a long time, recent research has highlighted multiple cellular functions of primary cilia and has brought cilia to the focus of medical and cell biological research.

Findings

Cilia are nowadays considered to be crucial cellular structures controlling diverse intracellular signaling cascades. Dysfunction of cilia leads to a pleiotropic group of diseases ranging from cystic kidney disease via neurologic disorders to metabolic phenotypes and cardiac malformations. According to the underlying cellular pathophysiology, these diverse disorders have been subsumed under the term “ciliopathies”.

Conclusions

The work on rare human ciliopathies has strongly deepened our genetic and cell biological understanding of multiple diseases and cellular events thus ultimately leading to clinical trials of novel therapeutic approaches. This review focuses on some of the important developments in ciliopathy research.

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Title: Ciliopathies - from rare inherited cystic kidney diseases to basic cellular function
Authors: Sandra Habbig
Max Christoph Liebau
Publication date: 01-12-2015
Publisher: Springer Berlin Heidelberg
Published in: Molecular and Cellular Pediatrics / Issue 1/2015
Electronic ISSN: 2194-7791
DOI: https://doi.org/10.1186/s40348-015-0019-1

At a glance: The ONWARDS insulin icodec trials

Springer Medicine

Ciliopathies - from rare inherited cystic kidney diseases to basic cellular function

Abstract

Background

Findings

Conclusions

At a glance: The ONWARDS insulin icodec trials

Springer Medicine

Abstract

Background

Findings

Conclusions

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